Clínic Barcelona. Hospital Universitari

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SLC25A20 gene (carnitine-acylcarnitine translocase deficiency - CACT) - specific mutation (familial case), whole blood

Fee code: 16324

Method description

PCR and sequencing

Delivery time

30 days

Note to delivery time


Attach medical records. You can also submit 30 microliters of DNA at room temperature.

Specimen type

Whole blood (anticoagulant: EDTA)

Specimen volume

2 - 5 mL

Specimen minimum volume

2 mL

Collection instructions


Preanalytic treatment


Transport conditions

At room temperature if the arrival to the laboratory within 48 hours is guaranteed. Otherwise, keep in fridge for a week maximum.

Rejection criteria

Clotted sample


Interpretive report of the results

Reference values

Values Units   Age  
SLC25A20 gene (CACT deficiency) - specific mutation      

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Biomedical Diagnostic Center (CDB)

Villarroel, 170 · 08036 Barcelona
Tel: +34 93 227 54 64 · Fax: +34 93 227 98 75 · ·